Mutations in ion channel genes have long been implicated in a spectrum of epilepsy syndromes. However, therapeutic decision-making is relatively complex for epilepsies associated with channelopathy. Therefore, in the present study, we used a patient-derived organoid model with a novel SCN2A mutation (p.E512K) to investigate the potential of utilizing such a model as a platform for preclinical testing of anti-seizure compounds. The electrophysiological properties of the variant Nav1.2 exhibited gain-of-function effects with increased current amplitude and premature activation. Immunofluorescence staining of patient-derived cortical organoids (COs) displayed normal neurodevelopment. Multielectrode array (MEA) recordings of patient-derived COs showed hyperexcitability with increased spiking and remarkable network bursts. Moreover, the application of patient-derived COs for preclinical drug testing using the MEA showed that they exhibit differential responses to various anti-seizure drugs and respond well to carbamazepine. Our results demonstrate that the individualized organoids have the potential to serve as a platform for preclinical pharmacological assessment.
Organoids/physiology* ; NAV1.2 Voltage-Gated Sodium Channel/genetics* ; Humans ; Anticonvulsants/pharmacology* ; Epilepsy/drug therapy* ; Mutation ; Cerebral Cortex/drug effects* ; Action Potentials/drug effects* ; Carbamazepine/pharmacology*

To summarize the applications of data-intelligence technology in diagnosing lysosomal storage disease(LSD), analyze their opportunities and challenges in clinical practice as well as their development trends, and provide insights and recommendations for advancing digitally driven auxiliary diagnostic technologies.

OBJECTIVE To investigate and control a suspected outbreak of hospital-associated Elizabethkingia a-nopheles infection in respiratory intensive care unit(RICU),and provide scientific basis for effective prevention and control of hospital-associated E.anophelis infection.METHODS The tracking source analysis was performed for 9 identified cases who were detected with E.anophelis through epidemiological survey,environmental hy-giene monitoring and endoscopic cavity visualization system,the surroundings that they contacted and the instru-ments they were treated with were investigated.The targeted prevention and control measures were implemented.RESULTS A total of 55 samples were collected from the surrounding environment and shared instru-ments of 9 patients detected with E.anophelis.Totally 6 samples were detected positive for the environmental ob-ject surfaces of 3 patients,and 15 positive samples were identified as the same source by homology analysis.Two faulty bronchoscopes were found through the visualization system of lumen instruments.CONCLUSIONS There are multiple pathways of cross-contamination of bronchoscope and person-to person transmission of E.anophelis in RICU.Strengthening the management of cleaning and disinfection of bronchoscope,increasing the frequency of cleaning and disinfection of RICU environmental surfaces and improving the compliance of hand hy-giene of medical staff are important measures to control the outbreak of hospital-associated infection.

Objective:Committee of Minimally Invasive Cardiovascular Surgery(CMICS) conducts an annual summary of minimally invasive cardiovascular surgery procedures performed throughout the country, which includes a comprehensive survey of the total number of minimally invasive procedures by region and the distribution of minimally invasive procedures by hospital. Since CMICS first published the 2018-2019 China Minimally Invasive Cardiovascular Surgery Data White Paper in 2020, the report has received great attention from peers within and outside the industry. In this statistical report, CMICS will focus on publishing the data related to minimally invasive cardiovascular surgery in China from 2021 to 2023 for reference and use by industry peers.

Objective:To investigate the use of apolipoprotein B (ApoB) diagnostic algorithm for hyperlipidemia typing combined with whole exome sequencing in the precise diagnosis of familial hyperlipidemia.Methods:A retrospective observational study was conducted by collecting clinical information on all patients who attended our hospital, and had their lipid levels tested from January 2023 to May 2024, including 440 patients with low-density lipoprotein cholesterol (LDL-C)>4.10 mmol/L. Family history, current lipid levels, medication use, and comorbidities were collected by telephone follow-ups. Among them, 10 patients had a family history of hyperlipidemia. Peripheral venous blood samples were collected from patients with a family history of hyperlipidemia, and whole exome sequencing was performed.Results:According to the Fredrickson typing of WHO, 10 patients (P1 to P10) could be categorized into two groups, of which only type Ⅱa could be excluded in 6 cases, and the typing could not be determined in 4 cases. The ApoB diagnostic algorithm of hyperlipidemia typing could classify patients P1 and P2 as type Ⅱa, patients P3 to P7, P9 and P10 as type Ⅱb, and patient P8 as type Ⅴ, respectively. Whole exome sequencing detected mutations in LDLR, PCSK9, C5AR2, KIF12, ALMS1, ABCG5, COL4A3, and MTTP genes.Conclusion:The ApoB diagnostic algorithm for hyperlipidemia can be used for accurate typing of hyperlipidemia, and ApoB could be recommended as a routine lipid testing parameter. The ApoB diagnostic algorithm for hyperlipidemia combined with whole exome sequencing could be used for the accurate typing of patients with familial hyperlipidemia and defining the underlying gene mutations.

Objective To explore the research status,hotspots and trends in the field of traditional Chinese medicine in the treatment of dysfunctional uterine bleeding(DUB).Methods Relevant literatures on the treatment of DUB with traditional Chinese medicine were retrieved from China National Knowledge Infrastructure,Wanfang Data Knowledge Service Platform and VIP.Multi-dimensional visual analysis was conducted on the annual number of published papers,authors and institutions,and keywords using CiteSpace software.Results A total of 1649 literatures were included according to the inclusion and exclusion criteria.The top three authors in terms of the number of published articles are You Zhaoling,Ma Huirong,and Wu Yanan.Shandong University of Traditional Chinese Medicine is the institution that has published the most papers.The research on the treatment of DUB with traditional Chinese medicine mainly focuses on the integrated treatment of traditional Chinese and Western medicine,perimenopause,adolescence,therapeutic effect observation,Guchong decoction,sex hormones,and so on.Conclusion The research on the treatment of DUB with traditional Chinese medicine mainly focuses on the application of traditional Chinese medicine prescriptions,clinical observation and therapeutic effect indicators,etc.Subsequently,in-depth exploration of new traditional Chinese medical therapies and new observation indicators is still needed.In the future,the observation of new microscopic indicators and the research on pathological mechanisms may be potential research hotspots and directions.

Soil cadmium pollution can adversely affect the cultivation of the ornamental plant, Coleus scutellarioides. Upon cadmium contamination of the soil, the growth of C. scutellarioides is impeded, and it may even succumb to the toxic accumulation of cadmium. In this study, we investigated the effects of arbuscular mycorrhizal fungi (AMF) on the adaptation of C. scutellarioides to cadmium stress, by measuring the physiological metabolism and the degree of root damage of C. scutellarioides, with Aspergillus oryzae as the test fungi. The results indicated that cadmium stress increased the activity of superoxide dismutase (SOD), peroxidase (POD), and catalase (CAT), and the content of malondialdehyde (MDA) and proline (Pro) within the cells of C. scutellarioides, but inhibited mycorrhizal infestation rate, root vigour and growth rate to a great degree. With the same cadmium concentration, the inoculation of AMF significantly improved the physiological indexes of C. scutellarioides. The maximum decrease of MDA content was 42.16%, and the content of secondary metabolites rosemarinic acid and anthocyanosides could be increased by up to 27.43% and 25.72%, respectively. Meanwhile, the increase of root vigour was as high as 35.35%, and the DNA damage of the root system was obviously repaired. In conclusion, the inoculation of AMF can promote the accumulation of secondary metabolites, alleviate root damage, and enhance the tolerance to cadmium stress in C. scutellarioides.
Cadmium/toxicity* ; Mycorrhizae/physiology* ; Plant Roots/drug effects* ; Soil Pollutants/toxicity* ; Stress, Physiological ; Superoxide Dismutase/metabolism*

Objective:To investigate the impact of receptor-interacting protein kinase 3 (RIPK3) on major adverse cardiovascular events (MACE) in patients with acute myocardial infarction (AMI) after percutaneous coronary intervention (PCI), as well as the predictive performance of RIPK3 combined with traditional cardiovascular risk factors.Methods:This study was a single-center prospective cohort study. It included patients with AMI who underwent PCI at Peking Union Medical College Hospital between September 2017 and November 2017. Baseline clinical data were collected, and plasma samples were obtained 6 hours after PCI to measure RIPK3 levels. Follow-up was conducted via outpatient visits or phone calls to record the occurrence of MACE, including cardiovascular death, hospitalization for heart failure, and vascular events (recurrent AMI or stroke). The predictive performance of RIPK3, traditional cardiovascular risk factors and their combination for MACE was compared using receiver operating characteristic (ROC) curves. Patients were divided into low- and high-RIPK3 level groups based on the optimal cutoff value of RIPK3. Multivariate Cox proportional hazards regression analysis was used to assess the impact of RIPK3 levels on MACE after PCI in AMI patients. Kaplan-Meier survival curves were plotted, and the log-rank test was used to compare MACE incidence between the low-and high-RIPK3 groups.Results:A total of 103 AMI patients who underwent PCI were included, aged 63.0 (56.0, 69.0) years, and 83 (80.6%) were male. The follow-up time was 5.17 (2.81, 5.17) years, during which 44 patients (42.7%) experienced MACE. The ROC curve analysis showed that the area under the curve ( AUC) for traditional cardiovascular risk factors was 0.68 (95% CI: 0.58-0.78), while the AUC for plasma RIPK3 was 0.72 (95% CI: 0.62-0.82). The combined AUC for traditional risk factors and RIPK3 was 0.75 (95% CI: 0.65-0.85). Multivariate Cox proportional hazards regression analysis indicated that plasma RIPK3 level is greater than or equal to the optimal cutoff value of 440.9 μg/L ( HR=3.31, 95% CI: 1.53-8.30, P=0.005) was an independent risk factor for MACE in AMI patients after PCI. Kaplan-Meier survival analysis demonstrated that the high-RIPK3 group had a significantly higher risk of MACE after PCI compared to the low-RIPK3 group (log-rank P=0.006). Conclusions:Elevated plasma RIPK3 level is an independent risk factor for MACE in AMI patients after PCI. Plasma RIPK3 combined with traditional cardiovascular risk factors can more effectively predict the occurrence of MACE in AMI patients after PCI. AMI patients with RIPK3≥440.9 μg/L have a higher risk of MACE after PCI.

Objective To explore the research status,hotspots and trends in the field of traditional Chinese medicine in the treatment of dysfunctional uterine bleeding(DUB).Methods Relevant literatures on the treatment of DUB with traditional Chinese medicine were retrieved from China National Knowledge Infrastructure,Wanfang Data Knowledge Service Platform and VIP.Multi-dimensional visual analysis was conducted on the annual number of published papers,authors and institutions,and keywords using CiteSpace software.Results A total of 1649 literatures were included according to the inclusion and exclusion criteria.The top three authors in terms of the number of published articles are You Zhaoling,Ma Huirong,and Wu Yanan.Shandong University of Traditional Chinese Medicine is the institution that has published the most papers.The research on the treatment of DUB with traditional Chinese medicine mainly focuses on the integrated treatment of traditional Chinese and Western medicine,perimenopause,adolescence,therapeutic effect observation,Guchong decoction,sex hormones,and so on.Conclusion The research on the treatment of DUB with traditional Chinese medicine mainly focuses on the application of traditional Chinese medicine prescriptions,clinical observation and therapeutic effect indicators,etc.Subsequently,in-depth exploration of new traditional Chinese medical therapies and new observation indicators is still needed.In the future,the observation of new microscopic indicators and the research on pathological mechanisms may be potential research hotspots and directions.

OBJECTIVE To investigate and control a suspected outbreak of hospital-associated Elizabethkingia a-nopheles infection in respiratory intensive care unit(RICU),and provide scientific basis for effective prevention and control of hospital-associated E.anophelis infection.METHODS The tracking source analysis was performed for 9 identified cases who were detected with E.anophelis through epidemiological survey,environmental hy-giene monitoring and endoscopic cavity visualization system,the surroundings that they contacted and the instru-ments they were treated with were investigated.The targeted prevention and control measures were implemented.RESULTS A total of 55 samples were collected from the surrounding environment and shared instru-ments of 9 patients detected with E.anophelis.Totally 6 samples were detected positive for the environmental ob-ject surfaces of 3 patients,and 15 positive samples were identified as the same source by homology analysis.Two faulty bronchoscopes were found through the visualization system of lumen instruments.CONCLUSIONS There are multiple pathways of cross-contamination of bronchoscope and person-to person transmission of E.anophelis in RICU.Strengthening the management of cleaning and disinfection of bronchoscope,increasing the frequency of cleaning and disinfection of RICU environmental surfaces and improving the compliance of hand hy-giene of medical staff are important measures to control the outbreak of hospital-associated infection.